Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger protein 318
Synonyms:
TZF,  D530032D06Rik,  2610034E08Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Zfp318 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp318 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Myeloma, Multiple
Paraproteinemia OMIM:254500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... OMIM:614470
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Bone Marrow Failure Syndrome 5
Testicular atrophy, Decreased circulating antibody level, Anemia, Pure red cell aplasia, Hypogona... OMIM:618165
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Decreased circulating antibody level, Part... OMIM:618261
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Candidiasis, Familial, 2
Increased circulating IgE level, Hypereosinophilia OMIM:212050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia ORPHA:83313
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:616100
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... ORPHA:169160
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... OMIM:615816
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune hemolytic anemia OMIM:608184
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Splen... OMIM:240500
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... ORPHA:276
Lassa Fever
Increased circulating IgM level, Spontaneous abortion, Menometrorrhagia ORPHA:99824
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... ORPHA:91139
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level, Spontaneous abortion ORPHA:448237
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Myotonic Dystrophy 2
Oligospermia, Decreased circulating IgG level, Hypogonadism, Decreased circulating total IgM OMIM:602668
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Increased circulating... OMIM:617303
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... ORPHA:507
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Decreased lymphocyte prolif... OMIM:606367
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
Rift Valley Fever
Spontaneous abortion, Anemia, Increased circulating IgG level, Increased circulating IgM level, T... ORPHA:319251
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I... OMIM:313900
Lymphoproliferative Syndrome 1
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... OMIM:613011
Immunodeficiency 75
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells OMIM:619126
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... ORPHA:555905
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... ORPHA:505248
Bloom Syndrome
Azoospermia, Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... OMIM:210900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... OMIM:617388
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Brucellosis
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Spontaneous abortion, Increased c... ORPHA:1304
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... OMIM:304790
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal serum interferon-gamma level, Hepatosplenomegaly, Panhypogammaglobulinemia, Decr... ORPHA:79124
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3 ORPHA:329918
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Increased circulating IgE level ORPHA:2902
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Abscess, Increased circulating IgG level, I... ORPHA:228123
Lead Poisoning
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... ORPHA:330015
Ebola Hemorrhagic Fever
Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Leukopenia ORPHA:319218
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased lymphoc... OMIM:613179
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... OMIM:615934
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Splenomeg... ORPHA:33226
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Urban-Rogers-Meyer Syndrome
Hypogonadism, Increased circulating IgE level ORPHA:3409
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Complement defici... ORPHA:449432
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgM level, Increased cir... ORPHA:79078
Prolidase Deficiency
Thrombocytopenia, Increased circulating antibody level, Anemia, Splenomegaly OMIM:170100
Immunodeficiency 47
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... OMIM:300972
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Decreased... OMIM:612301
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Bloom Syndrome
Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Azoosper... ORPHA:125
Wolfram Syndrome 2
Decreased circulating antibody level, Oligomenorrhea, Primary amenorrhea, Impaired collagen-induc... OMIM:604928
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Increased circulating IgG level, Splenomegaly, Neutrophilia, Orchitis, ... ORPHA:99827
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells, Prostatitis OMIM:307200
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Increased circulating antibody level, Pancytopen... ORPHA:77259
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Decreased proportion of class-switched memory B cells, Comp... OMIM:233600
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... ORPHA:99829
Alg12-Cdg
B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Poems Syndrome
Thrombocytosis, Polycythemia, Erectile dysfunction, Hypogonadism, Increased circulating antibody ... ORPHA:2905
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Abscess, Increased circulating antibody level, Eosinophilia ORPHA:400
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Congenital Analbuminemia
Increased circulating antibody level, Spontaneous abortion ORPHA:86816
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Nijmegen Breakage Syndrome
B lymphocytopenia, Dysgammaglobulinemia, Premature ovarian insufficiency, Thrombocytopenia, T lym... OMIM:251260
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... ORPHA:29073
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG1... ORPHA:90363
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level, Premature ovari... OMIM:212065
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... OMIM:610377
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Infertility, Iron deficiency anemia, Decreased circulating IgA... OMIM:212750
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Decreased circul... ORPHA:183675
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly OMIM:613385
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Alveolar Echinococcosis
Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophilia, Cutaneous... ORPHA:284
Al Amyloidosis
Increased circulating antibody level, Howell-Jolly bodies, Anemia, Autonomic erectile dysfunction ORPHA:85443
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Gaucher Disease Type 3
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia ORPHA:77261
Q Fever
Cryoglobulinemia, Anemia, Splenomegaly, Hepatosplenomegaly, Increased circulating antibody level,... ORPHA:781
Scleromyxedema
Paraproteinemia ORPHA:167635
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly OMIM:613327
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Cryoglobulinemia, Decreased serum complement C4, Normochromic anem... ORPHA:289390
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Spleno... ORPHA:37042
Igg4-Related Pachymeningitis
Complement deficiency, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Igg4-Related Kidney Disease
Prostatitis, Decreased serum complement C4, Increased circulating IgG4 level, Increased circulati... ORPHA:449395
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... ORPHA:2298
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Dubowitz Syndrome
Decreased circulating IgA level, Acute lymphoblastic leukemia, Aplastic anemia, Decreased circula... OMIM:223370
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Igg4-Related Ophthalmic Disease
Prostatitis, Increased circulating IgG4 level, Increased circulating IgE level, Orchitis, Eosinop... ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Increased circulating IgA level, Increased circulating inter... OMIM:256040
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Severe B lymphocytopenia, Decreased circulating total IgM ORPHA:83617
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Increased circ... ORPHA:99826
Lysinuric Protein Intolerance
Leukopenia, Decreased circulating antibody level, Anemia, Complement deficiency, Hepatosplenomega... ORPHA:470
Postinfectious Vasculitis
Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Orchitis... ORPHA:48435
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly OMIM:181000
Cysticercosis
Increased circulating antibody level ORPHA:1560
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Abnormal serum interfero... ORPHA:391487
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Gaucher Disease
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia ORPHA:355
Trichinellosis
Increased circulating IgE level ORPHA:863
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... ORPHA:91500
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Splenomegaly ORPHA:373
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Hypereosinophilia, Increased ci... OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zfp318

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp318.

No publications found that use IMPC mice or data for Zfp318.

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MGI Allele Allele Type Produced
Zfp318tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zfp318em1(IMPC)H Intra-exon deletion Mice
Zfp318tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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